Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.

Mikstiene, Violeta

Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified. [electronic resource] - American journal of medical genetics. Part A Jul 2015 - 1605-9 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.37015 doi


Anemia, Megaloblastic--drug therapy
Base Sequence
Child, Preschool
Diabetes Mellitus--drug therapy
Hearing Loss, Sensorineural--drug therapy
Homozygote
Humans
Lithuania
Male
Membrane Transport Proteins--genetics
Molecular Sequence Data
Mutation, Missense--genetics
Sequence Analysis, DNA
Thiamine--therapeutic use
Thiamine Deficiency--congenital
Treatment Outcome